Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

"all gfm2 variants have been submitted to clinvar ( https://www ncbi nlm nih gov/clinvar/ ) with the following identifiers: c 569g>a scv000605919; c 636dela scv000605920; c 275a>c scv000605921."

"Conflict of interest The authors declare that there is no conflict of interest."

"Funding information This work is funded by the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), the Medical Research Council (MRC) Centre for Translational Research in Neuromuscular Disease, Mitochondrial Disease Patient Cohort (UK) (G0800674), the Lily Foundation, the UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children and the Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy’s and St. Thomas’ NHS Foundation Trust in partnership with the King’s College London. CLA was supported by an NIHR/CSO Healthcare Science Research Fellowship from the National Institute for Health Research (NIHR-HCS-D12-03-04). TBH was supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (grant no. FKZ 01ZX1405C). This study was also supported by the German Bundesministerium für Bildung und Forschung (BMBF) and Horizon 2020 through E-Rare project GENOMIT (01GM1603, 01GM1207 to H.P.) and the EU Horizon 2020 Collaborative Research Project SOUND (633974 to H.P.)."